| Disease Browser
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Parent Node:
 Blood Protein Disorders (D001796) | Parent Node:
Immunologic Deficiency Syndromes (D007153) | Parent Node:
Lymphoproliferative Disorders (D008232) | ..Starting node
.. Agammaglobulinemia (D000361)
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Child Nodes:
| | ........Achondroplasia and Swiss type agammaglobulinemia (C536020) | | ........AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495) | | ........AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502) | | ........AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692) | | ........Agammaglobulinemia, microcephaly, and severe dermatitis (C538055) | | ........Agammaglobulinemia, non-Bruton type (C538056) | | ........Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant (C563305) | | ........Agammaglobulinemia, X-linked, type 2 (C538057) | | ........Bruton type agammaglobulinemia (C537409) | | ........Frenkel Russe syndrome (C535638) | | ........Granulocytopenia with Immunoglobulin Abnormality (C565535) | | ........Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149) | | ........Hypogammaglobulinemia, X-Linked (C562478) | | ........Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852) | | ........Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888) | | ........Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381) | | ........Osteopetrosis, Autosomal Recessive 7 (C567354) | | ........Say Barber Miller syndrome (C536618) | | ........Severe combined immunodeficiency due to adenosine deaminase deficiency (C531816) |
Sister Nodes: | ..Agammaglobulinemia (D000361)  19
| ..Autoimmune Lymphoproliferative Syndrome (D056735) 5
| ..Giant Lymph Node Hyperplasia (D005871) 2
| ..Granuloma (D006099) 17
| ..Heavy Chain Disease (D006362) 7
| ..Immunoblastic Lymphadenopathy (D007119)
| ..Immunoproliferative Small Intestinal Disease (D007161)
| ..Infectious Mononucleosis (D007244)
| ..Leukemia, Hairy Cell (D007943)
| ..Leukemia, Lymphoid (D007945) 14
| ..Lymphangiomyoma (D008203) 1
| ..Lymphoma (D008223) 36
| ..Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 (C567815)
| ..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
| ..Macrophage Activation Syndrome (D055501)
| ..Marek Disease (D008380)
| ..Multiple Myeloma (D009101) 1
| ..Plasmacytoma (D010954) 1
| ..Sarcoidosis (D012507) 4
| ..Sezary Syndrome (D012751)
| ..Tumor Lysis Syndrome (D015275)
| ..Waldenstrom Macroglobulinemia (D008258)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 349 |
| Name: | Agammaglobulinemia |
| Definition: | An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. |
| Alternative IDs: | OMIM:613500|OMIM:613501|OMIM:613506 |
| ParentIDs: | MESH:D001796|MESH:D007153|MESH:D008232 |
| TreeNumbers: | C15.378.147.142 |C15.604.515.032 |C20.673.088 |
| Synonyms: | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT |AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT |AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT |AGAMMAG |
| Slim Mappings: | Blood disease|Immune system disease|Lymphatic disease |
| Reference: |
MedGen: D000361
MeSH: D000361
OMIM: 613500;
Genes: CD79A; IGLL1; LRRC8A; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_020070.3(IGLL1):c.425C>T (p.Pro142Leu) | 3543 | IGLL1 | Pathogenic | 1064422 | RCV000015949; | N | MedGen:C3150750,OMIM:613500 | 22 | 23915670 | 23915670 | NM_020070.3:c.425C>T | NP_064455.1:p.Pro142Leu | NC_000022.10:g.23915670G>A | OMIM Allelic Variant:146770.0002 | C3150750 613500 Agammaglobulinemia 2, autosomal recessive | | | | NM_020070.3(IGLL1):c.64C>T (p.Gln22Ter) | 3543 | IGLL1 | Pathogenic | 74315491 | RCV000015948; | N | MedGen:C3150750,OMIM:613500 | 22 | 23922314 | 23922314 | NM_020070.3:c.64C>T | NP_064455.1:p.Gln22Ter | NC_000022.10:g.23922314G>A | OMIM Allelic Variant:146770.0001 | C3150750 613500 Agammaglobulinemia 2, autosomal recessive | | |
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